A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589096



Internal ID6976513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230603758..230615786hg38UCSC Ensembl
Innerchr1:230603767..230615778hg38UCSC Ensembl
Outerchr1:230603750..230615795hg38UCSC Ensembl
chr1:230739504..230751532hg19UCSC Ensembl
Innerchr1:230739513..230751524hg19UCSC Ensembl
Outerchr1:230739496..230751541hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3812029
hg1912029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10317507
SamplesHG02088
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer